TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta
Graphical Abstract Osteogenesis imperfecta (OI) is a hereditary skeletal disorder primarily affecting collagen type I structure and function, causing bone fragility and occasionally versatile extraskeletal symptoms. This study expands the spectrum of OI‐causing TAPT1 mutations and links extracellula...
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| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Springer Nature
2023-06-01
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| Series: | EMBO Molecular Medicine |
| Online Access: | https://doi.org/10.15252/emmm.202317528 |
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| author | Julia Etich Oliver Semler Nicola L Stevenson Alice Stephan Roberta Besio Nadia Garibaldi Nadine Reintjes Claudia Dafinger Max Christoph Liebau Ulrich Baumann Matthias Mörgelin Antonella Forlino David J Stephens Christian Netzer Frank Zaucke Mirko Rehberg |
| author_facet | Julia Etich Oliver Semler Nicola L Stevenson Alice Stephan Roberta Besio Nadia Garibaldi Nadine Reintjes Claudia Dafinger Max Christoph Liebau Ulrich Baumann Matthias Mörgelin Antonella Forlino David J Stephens Christian Netzer Frank Zaucke Mirko Rehberg |
| author_sort | Julia Etich |
| collection | DOAJ |
| description | Graphical Abstract Osteogenesis imperfecta (OI) is a hereditary skeletal disorder primarily affecting collagen type I structure and function, causing bone fragility and occasionally versatile extraskeletal symptoms. This study expands the spectrum of OI‐causing TAPT1 mutations and links extracellular matrix changes to signaling regulation. |
| format | Article |
| id | doaj-art-077e278d65f247e7b8af5b5934cd8fe4 |
| institution | Kabale University |
| issn | 1757-4676 1757-4684 |
| language | English |
| publishDate | 2023-06-01 |
| publisher | Springer Nature |
| record_format | Article |
| series | EMBO Molecular Medicine |
| spelling | doaj-art-077e278d65f247e7b8af5b5934cd8fe42025-08-20T04:02:55ZengSpringer NatureEMBO Molecular Medicine1757-46761757-46842023-06-011571510.15252/emmm.202317528TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfectaJulia Etich0Oliver Semler1Nicola L Stevenson2Alice Stephan3Roberta Besio4Nadia Garibaldi5Nadine Reintjes6Claudia Dafinger7Max Christoph Liebau8Ulrich Baumann9Matthias Mörgelin10Antonella Forlino11David J Stephens12Christian Netzer13Frank Zaucke14Mirko Rehberg15Dr. Rolf M. Schwiete Research Unit for Osteoarthritis, Department of Orthopedics (Friedrichsheim), University Hospital Frankfurt, Goethe University Frankfurt/MainDepartment of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of CologneCell Biology Laboratories, School of Biochemistry, Faculty of Life Sciences, University Walk, University of BristolDr. Rolf M. Schwiete Research Unit for Osteoarthritis, Department of Orthopedics (Friedrichsheim), University Hospital Frankfurt, Goethe University Frankfurt/MainBiochemistry Unit, Department of Molecular Medicine, University of PaviaBiochemistry Unit, Department of Molecular Medicine, University of PaviaInstitute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of CologneDepartment of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of CologneDepartment of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of CologneInstitute of Biochemistry, University of CologneColzyx ABBiochemistry Unit, Department of Molecular Medicine, University of PaviaCell Biology Laboratories, School of Biochemistry, Faculty of Life Sciences, University Walk, University of BristolCenter for Rare Diseases, University Hospital Cologne, University of CologneDr. Rolf M. Schwiete Research Unit for Osteoarthritis, Department of Orthopedics (Friedrichsheim), University Hospital Frankfurt, Goethe University Frankfurt/MainDepartment of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of CologneGraphical Abstract Osteogenesis imperfecta (OI) is a hereditary skeletal disorder primarily affecting collagen type I structure and function, causing bone fragility and occasionally versatile extraskeletal symptoms. This study expands the spectrum of OI‐causing TAPT1 mutations and links extracellular matrix changes to signaling regulation.https://doi.org/10.15252/emmm.202317528 |
| spellingShingle | Julia Etich Oliver Semler Nicola L Stevenson Alice Stephan Roberta Besio Nadia Garibaldi Nadine Reintjes Claudia Dafinger Max Christoph Liebau Ulrich Baumann Matthias Mörgelin Antonella Forlino David J Stephens Christian Netzer Frank Zaucke Mirko Rehberg TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta EMBO Molecular Medicine |
| title | TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta |
| title_full | TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta |
| title_fullStr | TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta |
| title_full_unstemmed | TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta |
| title_short | TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta |
| title_sort | tapt1 at the crossroads of extracellular matrix and signaling in osteogenesis imperfecta |
| url | https://doi.org/10.15252/emmm.202317528 |
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